Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777789
rs587777789
TFG
3 0.882 0.080 3 100744917 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs207482230
rs207482230
TFG
5 0.882 0.080 3 100748182 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs387906738
rs387906738
DYNC1H1
3 0.882 0.080 14 101980506 missense variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs587781253
rs587781253
DYNC1H1
1 1.000 0.080 14 101985925 missense variant G/A snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs121908160
rs121908160
KIF1B
4 0.882 0.080 1 10258602 missense variant A/T snv 0.700 0
dbSNP: rs267606772
rs267606772
DNM2
3 0.925 0.080 19 10793799 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs199927590
rs199927590
DNM2
1 1.000 0.080 19 10797424 missense variant A/G snv 1.1E-04 1.0E-04 0.700 1.000 1 2014 2014
dbSNP: rs121909088
rs121909088
DNM2
3 0.925 0.080 19 10819992 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs267607145
rs267607145
TRPV4
4 0.882 0.080 12 109798820 missense variant G/A;T snv 0.700 0
dbSNP: rs267607143
rs267607143
TRPV4
5 0.851 0.080 12 109798823 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs267607144
rs267607144
TRPV4
17 0.716 0.360 12 109800665 missense variant C/T snv 0.700 0
dbSNP: rs267607146
rs267607146
TRPV4
5 0.851 0.080 12 109800666 missense variant G/A;T snv 7.0E-06 0.700 0
dbSNP: rs1553192091
rs1553192091
ATP1A1 ; ATP1A1-AS1
2 0.925 0.080 1 116395247 missense variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs104894351
rs104894351
HSPB8 ; LOC107984440
7 0.827 0.080 12 119187078 missense variant A/C;G snv 0.710 1.000 1 2006 2006
dbSNP: rs104894345
rs104894345
HSPB8 ; LOC107984440
6 0.827 0.080 12 119187080 missense variant G/C;T snv 0.720 1.000 2 2006 2017
dbSNP: rs121918312
rs121918312
BAG3
11 0.776 0.160 10 119672373 missense variant C/A;T snv 0.700 0
dbSNP: rs28940291
rs28940291
MFN2
9 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 0.020 1.000 2 2010 2019
dbSNP: rs119103268
rs119103268
MFN2
6 0.827 0.080 1 11992689 missense variant C/T snv 0.710 1.000 4 2008 2014
dbSNP: rs28940294
rs28940294
MFN2
3 0.882 0.080 1 12001423 missense variant G/A snv 4.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs2236057
rs2236057
MFN2
2 0.925 0.120 1 12002148 intron variant A/G snv 0.65 0.65 0.010 < 0.001 1 2016 2016
dbSNP: rs119103267
rs119103267
MFN2
7 0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs776497952
rs776497952
DHTKD1
1 1.000 0.080 10 12117722 missense variant C/A;T snv 2.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs756880678
rs756880678
LRSAM1
2 0.925 0.080 9 127501009 splice acceptor variant G/A snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs786200930
rs786200930
LRSAM1
2 0.925 0.080 9 127502846 frameshift variant -/GC delins 0.710 1.000 1 2017 2017
dbSNP: rs119483085
rs119483085
NDRG1
5 0.851 0.160 8 133258374 stop gained G/A snv 7.0E-06 0.010 1.000 1 2013 2013